CTNNB1 syndrome mouse models.

Abstract excerpt

CTNNB1 syndrome is a rare neurodevelopmental disorder, affecting children worldwide with a prevalence of 2.6-3.2 per 100,000 births and often misdiagnosed as cerebral palsy. De novo loss-of-function mutations in the Ctnnb1 gene result in dysfunction of the β-catenin protein, disrupting the canonical Wnt signaling pathway, which plays a key role in cell proliferation, differentiation, and tissue homeostasis....

Topics

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• beta Catenin
• Disease Models, Animal
• CTNNB1 gene
• Mice
• Mutation
• Neurodevelopmental Disorders